Fejzić Elma, Eminović Izet, Karamehić Jasenko, Šahović Amela, Šišić Sanela, Suljević Damir
Department of Molecular Imunnogenetic, Institute of Transfusion Medicine, Sarajevo, Bosnia and Herzegovina.
Department of Biology, Faculty of Science, Sarajevo, Bosnia and Herzegovina.
Arch Rheumatol. 2018 Sep 7;34(2):166-175. doi: 10.5606/ArchRheumatol.2019.7036. eCollection 2019 Jun.
This study aims to investigate the low-resolution human leukocyte antigen (HLA)-B locus polymorphisms between unrelated healthy individuals and patients with diagnosis of seronegative spondyloarthropathies and determine risky and protective allelic groups and genotypes.
The study included 104 healthy control individuals (52 males, 52 females; median age 43 years; range 2 to 76 years) and 96 patients (43 males, 53 females; median age 28.5 years; range 2 to 67 years) diagnosed with: ankylosing spondylitis (AS) (n=19), reactive arthritis (n=19), psoriatic arthritis (n=28) and undifferentiated spondyloarthropathies (n=30). Genomic deoxyribonucleic acid was extracted from peripheral blood to detect allelic groups of HLA class I and II. Single-specific-primer polymerase chain reaction was used for HLA genotyping and visualization of products after their separation on 1.5% agarose gel for horizontal gel electrophoresis.
Significantly increased frequency was found for HLA-A02 and HLA-B27 allelic variants in all groups of patients. The increased frequency of the HLA-B35 allelic group in the control group represents the protective gene variant for the occurrence of AS. The predisposing genotype (HLA-B27/B44 and B27/B*51) for the onset of disease was only found in AS patients.
This study shows the strong association of HLA-B*27 antigen with spondyloarthropathies, which is considered a risk variant of the gene for the onset of disease. Protective and risky allelic variants and genotypes are rare and their detection as well as increased frequency are possible if larger numbers of patients are involved.
本研究旨在调查健康个体与血清阴性脊柱关节病患者之间低分辨率人类白细胞抗原（HLA）-B基因座多态性，确定风险和保护性等位基因组及基因型。
本研究纳入104名健康对照个体（52名男性，52名女性；中位年龄43岁；范围2至76岁）和96名患者（43名男性，53名女性；中位年龄28.5岁；范围2至67岁），这些患者被诊断为：强直性脊柱炎（AS）（n = 19）、反应性关节炎（n = 19）、银屑病关节炎（n = 28）和未分化脊柱关节病（n = 30）。从外周血中提取基因组脱氧核糖核酸以检测HLA I类和II类等位基因组。单特异性引物聚合酶链反应用于HLA基因分型，并在1.5%琼脂糖凝胶上进行水平凝胶电泳分离后对产物进行可视化分析。
在所有患者组中均发现HLA-A02和HLA-B27等位基因变体频率显著增加。对照组中HLA-B35等位基因组频率增加代表了AS发生的保护性基因变体。仅在AS患者中发现了疾病发作的易感基因型（HLA-B27/B44和B27/B*51）。
本研究表明HLA-B*27抗原与脊柱关节病密切相关，其被认为是疾病发作的基因风险变体。如果纳入更多患者，保护性和风险性等位基因变体及基因型很少见，但其检测以及频率增加是可能的。
